NM_002885.4(RAP1GAP):c.1909G>A (p.Gly637Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 5, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004438355.1

Allele description [Variation Report for NM_002885.4(RAP1GAP):c.1909G>A (p.Gly637Ser)]

NM_002885.4(RAP1GAP):c.1909G>A (p.Gly637Ser)

Gene:

RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

Preferred name:

NM_002885.4(RAP1GAP):c.1909G>A (p.Gly637Ser)

HGVS:

NC_000001.11:g.21598035C>T
NG_029807.1:g.76329G>A
NM_001145657.3:c.1963G>A
NM_001145658.3:c.2101G>A
NM_001330383.3:c.2164G>A
NM_001350524.2:c.2140G>A
NM_001350525.2:c.1987G>A
NM_001350526.2:c.1987G>A
NM_001350527.2:c.1909G>A
NM_001350528.2:c.1885G>A
NM_001388200.1:c.2164G>A
NM_001388201.1:c.2140G>A
NM_001388202.1:c.1987G>A
NM_001388203.1:c.1987G>A
NM_001388204.1:c.1909G>A
NM_001388205.1:c.2164G>A
NM_001388206.1:c.2164G>A
NM_001388207.1:c.2164G>A
NM_001388208.1:c.2164G>A
NM_001388209.1:c.2164G>A
NM_001388210.1:c.1873G>A
NM_001388211.1:c.2140G>A
NM_001388212.1:c.2140G>A
NM_001388213.1:c.2140G>A
NM_001388214.1:c.2140G>A
NM_001388215.1:c.2092G>A
NM_001388216.1:c.1795G>A
NM_001388217.1:c.2050G>A
NM_001388218.1:c.2029G>A
NM_001388219.1:c.1711G>A
NM_001388220.1:c.1987G>A
NM_001388221.1:c.1987G>A
NM_001388222.1:c.1987G>A
NM_001388223.1:c.1987G>A
NM_001388224.1:c.1987G>A
NM_001388225.1:c.1987G>A
NM_001388226.1:c.1963G>A
NM_001388227.1:c.1963G>A
NM_001388228.1:c.1963G>A
NM_001388229.1:c.1963G>A
NM_001388230.1:c.1963G>A
NM_001388231.1:c.1960G>A
NM_001388233.1:c.1948G>A
NM_001388234.1:c.1936G>A
NM_001388235.1:c.1936G>A
NM_001388236.1:c.1909G>A
NM_001388237.1:c.1909G>A
NM_001388238.1:c.1909G>A
NM_001388239.1:c.1909G>A
NM_001388240.1:c.1909G>A
NM_001388241.1:c.1909G>A
NM_001388242.1:c.1909G>A
NM_001388243.1:c.1909G>A
NM_001388244.1:c.1903G>A
NM_001388245.1:c.1885G>A
NM_001388246.1:c.1885G>A
NM_001388247.1:c.1885G>A
NM_001388248.1:c.1885G>A
NM_001388249.1:c.1885G>A
NM_001388250.1:c.1885G>A
NM_001388251.1:c.1873G>A
NM_001388252.1:c.1873G>A
NM_001388253.1:c.1858G>A
NM_001388254.1:c.1849G>A
NM_001388255.1:c.1880-307G>A
NM_001388256.1:c.1837G>A
NM_001388258.1:c.1837G>A
NM_001388259.1:c.1834G>A
NM_001388261.1:c.1795G>A
NM_001388263.1:c.1795G>A
NM_001388264.1:c.1795G>A
NM_001388266.1:c.1795G>A
NM_001388267.1:c.1795G>A
NM_001388269.1:c.1771G>A
NM_001388270.1:c.1771G>A
NM_001388273.1:c.1771G>A
NM_001388276.1:c.1699G>A
NM_001388279.1:c.1444G>A
NM_001388280.1:c.1444G>A
NM_001388281.1:c.1585G>A
NM_001388282.1:c.1792G>A
NM_001388283.1:c.1885G>A
NM_001388284.1:c.1909G>A
NM_001388285.1:c.1909G>A
NM_001388286.1:c.1912G>A
NM_001388287.1:c.1963G>A
NM_001388288.1:c.1987G>A
NM_001388289.1:c.2077G>A
NM_001388290.1:c.2095G>A
NM_001388291.1:c.2107G>A
NM_001388292.1:c.2155G>A
NM_001388293.1:c.2179G>A
NM_001388294.1:c.2332G>A
NM_001388295.1:c.2356G>A
NM_001388296.1:c.2101G>A
NM_002885.4:c.1909G>AMANE SELECT
NP_001139129.1:p.Gly655Ser
NP_001139130.1:p.Gly701Ser
NP_001317312.1:p.Gly722Ser
NP_001337453.1:p.Gly714Ser
NP_001337454.1:p.Gly663Ser
NP_001337455.1:p.Gly663Ser
NP_001337456.1:p.Gly637Ser
NP_001337457.1:p.Gly629Ser
NP_001375129.1:p.Gly722Ser
NP_001375130.1:p.Gly714Ser
NP_001375131.1:p.Gly663Ser
NP_001375132.1:p.Gly663Ser
NP_001375133.1:p.Gly637Ser
NP_001375134.1:p.Gly722Ser
NP_001375135.1:p.Gly722Ser
NP_001375136.1:p.Gly722Ser
NP_001375137.1:p.Gly722Ser
NP_001375138.1:p.Gly722Ser
NP_001375139.1:p.Gly625Ser
NP_001375140.1:p.Gly714Ser
NP_001375141.1:p.Gly714Ser
NP_001375142.1:p.Gly714Ser
NP_001375143.1:p.Gly714Ser
NP_001375144.1:p.Gly698Ser
NP_001375145.1:p.Gly599Ser
NP_001375146.1:p.Gly684Ser
NP_001375147.1:p.Gly677Ser
NP_001375148.1:p.Gly571Ser
NP_001375149.1:p.Gly663Ser
NP_001375150.1:p.Gly663Ser
NP_001375151.1:p.Gly663Ser
NP_001375152.1:p.Gly663Ser
NP_001375153.1:p.Gly663Ser
NP_001375154.1:p.Gly663Ser
NP_001375155.1:p.Gly655Ser
NP_001375156.1:p.Gly655Ser
NP_001375157.1:p.Gly655Ser
NP_001375158.1:p.Gly655Ser
NP_001375159.1:p.Gly655Ser
NP_001375160.1:p.Gly654Ser
NP_001375162.1:p.Gly650Ser
NP_001375163.1:p.Gly646Ser
NP_001375164.1:p.Gly646Ser
NP_001375165.1:p.Gly637Ser
NP_001375166.1:p.Gly637Ser
NP_001375167.1:p.Gly637Ser
NP_001375168.1:p.Gly637Ser
NP_001375169.1:p.Gly637Ser
NP_001375170.1:p.Gly637Ser
NP_001375171.1:p.Gly637Ser
NP_001375172.1:p.Gly637Ser
NP_001375173.1:p.Gly635Ser
NP_001375174.1:p.Gly629Ser
NP_001375175.1:p.Gly629Ser
NP_001375176.1:p.Gly629Ser
NP_001375177.1:p.Gly629Ser
NP_001375178.1:p.Gly629Ser
NP_001375179.1:p.Gly629Ser
NP_001375180.1:p.Gly625Ser
NP_001375181.1:p.Gly625Ser
NP_001375182.1:p.Gly620Ser
NP_001375183.1:p.Gly617Ser
NP_001375185.1:p.Gly613Ser
NP_001375187.1:p.Gly613Ser
NP_001375188.1:p.Gly612Ser
NP_001375190.1:p.Gly599Ser
NP_001375192.1:p.Gly599Ser
NP_001375193.1:p.Gly599Ser
NP_001375195.1:p.Gly599Ser
NP_001375196.1:p.Gly599Ser
NP_001375198.1:p.Gly591Ser
NP_001375199.1:p.Gly591Ser
NP_001375202.1:p.Gly591Ser
NP_001375205.1:p.Gly567Ser
NP_001375208.1:p.Gly482Ser
NP_001375209.1:p.Gly482Ser
NP_001375210.1:p.Gly529Ser
NP_001375211.1:p.Gly598Ser
NP_001375212.1:p.Gly629Ser
NP_001375213.1:p.Gly637Ser
NP_001375214.1:p.Gly637Ser
NP_001375215.1:p.Gly638Ser
NP_001375216.1:p.Gly655Ser
NP_001375217.1:p.Gly663Ser
NP_001375218.1:p.Gly693Ser
NP_001375219.1:p.Gly699Ser
NP_001375220.1:p.Gly703Ser
NP_001375221.1:p.Gly719Ser
NP_001375222.1:p.Gly727Ser
NP_001375223.1:p.Gly778Ser
NP_001375224.1:p.Gly786Ser
NP_001375225.1:p.Gly701Ser
NP_002876.2:p.Gly637Ser
NC_000001.10:g.21924528C>T
NM_001145658.1:c.2101G>A
NR_170899.1:n.1994G>A
NR_170900.1:n.2270G>A
NR_170901.1:n.2192G>A
NR_170902.1:n.2447G>A
NR_170903.1:n.2185G>A
NR_170904.1:n.2078G>A
NR_170905.1:n.2382G>A
NR_170906.1:n.2554G>A
NR_170907.1:n.2356G>A
NR_170908.1:n.2299G>A
NR_170909.1:n.2411G>A
NR_170910.1:n.2268G>A
NR_170911.1:n.2042G>A
NR_170912.1:n.2637G>A
NR_170913.1:n.2530G>A
NR_170914.1:n.2718G>A
NR_170915.1:n.2234G>A
NR_170916.1:n.2196G>A
NR_170920.1:n.2377G>A
NR_170921.1:n.2219G>A
NR_170923.1:n.2208G>A
NR_170924.1:n.2094G>A
NR_170925.1:n.3150G>A
NR_170926.1:n.1984G>A
NR_170927.1:n.2824G>A
NR_170928.1:n.2845G>A
NR_170929.1:n.2608G>A

Protein change:

G482S

Molecular consequence:

NM_001388255.1:c.1880-307G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001145657.3:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145658.3:c.2101G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330383.3:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350524.2:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350525.2:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350526.2:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350527.2:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350528.2:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388200.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388201.1:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388202.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388203.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388204.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388205.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388206.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388207.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388208.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388209.1:c.2164G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388210.1:c.1873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388211.1:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388212.1:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388213.1:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388214.1:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388215.1:c.2092G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388216.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388217.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388218.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388219.1:c.1711G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388220.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388221.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388222.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388223.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388224.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388225.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388226.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388227.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388228.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388229.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388230.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388231.1:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388233.1:c.1948G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388234.1:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388235.1:c.1936G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388236.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388237.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388238.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388239.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388240.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388241.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388242.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388243.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388244.1:c.1903G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388245.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388246.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388247.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388248.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388249.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388250.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388251.1:c.1873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388252.1:c.1873G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388253.1:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388254.1:c.1849G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388256.1:c.1837G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388258.1:c.1837G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388259.1:c.1834G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388261.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388263.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388264.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388266.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388267.1:c.1795G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388269.1:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388270.1:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388273.1:c.1771G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388276.1:c.1699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388279.1:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388280.1:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388281.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388282.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388283.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388284.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388285.1:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388286.1:c.1912G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388287.1:c.1963G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388288.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388289.1:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388290.1:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388291.1:c.2107G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388292.1:c.2155G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388293.1:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388294.1:c.2332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388295.1:c.2356G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388296.1:c.2101G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002885.4:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_170899.1:n.1994G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170900.1:n.2270G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170901.1:n.2192G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170902.1:n.2447G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170903.1:n.2185G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170904.1:n.2078G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170905.1:n.2382G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170906.1:n.2554G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170907.1:n.2356G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170908.1:n.2299G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170909.1:n.2411G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170910.1:n.2268G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170911.1:n.2042G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170912.1:n.2637G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170913.1:n.2530G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170914.1:n.2718G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170915.1:n.2234G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170916.1:n.2196G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170920.1:n.2377G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170921.1:n.2219G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170923.1:n.2208G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170924.1:n.2094G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170925.1:n.3150G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170926.1:n.1984G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170927.1:n.2824G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170928.1:n.2845G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170929.1:n.2608G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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SAMN42929573 (1)
SRA
UI-E-EO1-ajd-g-14-0-UI.s1 UI-E-EO1 Homo sapiens cDNA clone UI-E-EO1-ajd-g-14-0-U...
UI-E-EO1-ajd-g-14-0-UI.s1 UI-E-EO1 Homo sapiens cDNA clone UI-E-EO1-ajd-g-14-0-UI 3', mRNA sequence
gi|18992965|gnl|dbEST|11264002|gb|B 69.1|

Nucleotide
Varanus komodoensis strain:SLA01
Varanus komodoensis strain:SLA01
Varanus komodoensis strain:SLA01 RefSeq Genome sequencing

BioProject
Mus musculus trace amine-associated receptor 1 (Taar1), mRNA
Mus musculus trace amine-associated receptor 1 (Taar1), mRNA
gi|16716512|ref|NM_053205.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004936124	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004936124

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 5, 2023)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004936124.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2101G>A (p.G701S) alteration is located in exon 23 (coding exon 23) of the RAP1GAP gene. This alteration results from a G to A substitution at nucleotide position 2101, causing the glycine (G) at amino acid position 701 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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Relating variation to medicine